Neurofibromin: Difference between revisions

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== Disease Relevance ==

Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1. Neurofibromatosis type 1 is a condition where cancer develops by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people. The ''NF'' gene has the highest mutation rate of any human gene, adding to the prevalence of cancers related to neurofibromin mutations<ref name= ''Lupton''>PMID:34887559</ref>. Furthermore, these mutations consist heavily of [https://en.wikipedia.org/wiki/Mutation#By_inheritance ''de novo''] mutations<ref name= ''Abramowicz''>PMID:25182393</ref>. NF1 primarily causes tumors in the central and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. This multiplicity derives from the immense size and homo dimeric nature of the neurofibromin protein that allows for otherwise innocuous mutations to wreak havoc on the conformations of the protein as well as its ability to bind to the Ras protein as positioning of NF is highly important.

Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1. Neurofibromatosis type 1 is a condition where cancer develops by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people. The ''NF'' gene has the highest mutation rate of any human gene, adding to the prevalence of cancers related to neurofibromin mutations<ref name= ''Lupton''>PMID:34887559</ref>. Furthermore, these mutations consist heavily of [https://en.wikipedia.org/wiki/Mutation#By_inheritance ''de novo''] mutations<ref name= ''Abramowicz''>PMID:25182393</ref>. NF1 primarily causes tumors in the [https://en.wikipedia.org/wiki/Central_nervous_system_disease#Structural_defects central] and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. This multiplicity derives from the immense size and homo dimeric nature of the neurofibromin protein that allows for otherwise innocuous mutations to wreak havoc on the conformations of the protein as well as its ability to bind to the Ras protein given that the positioning of NF realtive to Ras is highly important.

==Downstream Effects==

Neurofibromin: Difference between revisions

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 == Disease Relevance ==
-Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1. Neurofibromatosis type 1 is a condition where cancer develops by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people. The ''NF'' gene has the highest mutation rate of any human gene, adding to the prevalence of cancers related to neurofibromin mutations<ref name= ''Lupton''>PMID:34887559</ref>. Furthermore, these mutations consist heavily of [https://en.wikipedia.org/wiki/Mutation#By_inheritance ''de novo''] mutations<ref name= ''Abramowicz''>PMID:25182393</ref>. NF1 primarily causes tumors in the central and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. This multiplicity derives from the immense size and homo dimeric nature of the neurofibromin protein that allows for otherwise innocuous mutations to wreak havoc on the conformations of the protein as well as its ability to bind to the Ras protein as positioning of NF is highly important.
+Mutations to the neurofibromin protein are implicated in the progression of Neurofibromatosis type 1. Neurofibromatosis type 1 is a condition where cancer develops by inactivating the Ras suppression effects of NF, allowing Ras to behave as an oncogene. Neurofibromatosis type 1 is an autosomal dominant disorder that affects 1 in 3,000 people. The ''NF'' gene has the highest mutation rate of any human gene, adding to the prevalence of cancers related to neurofibromin mutations<ref name= ''Lupton''>PMID:34887559</ref>. Furthermore, these mutations consist heavily of [https://en.wikipedia.org/wiki/Mutation#By_inheritance ''de novo''] mutations<ref name= ''Abramowicz''>PMID:25182393</ref>. NF1 primarily causes tumors in the [https://en.wikipedia.org/wiki/Central_nervous_system_disease#Structural_defects central] and peripheral nervous systems, but often has a multisystem expression including tumors in the dermatologic, cardiovascular, gastrointestinal, and orthopedic systems<ref name= ''Cimino''>PMID:29478615</ref>. The wide range of presentations is consistent with the multiplicity of mutations observed in the causative protein<ref name= ''Ly''>PMID:31582003</ref>. This multiplicity derives from the immense size and homo dimeric nature of the neurofibromin protein that allows for otherwise innocuous mutations to wreak havoc on the conformations of the protein as well as its ability to bind to the Ras protein given that the positioning of NF realtive to Ras is highly important.
 ==Downstream Effects==